Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients

Mutations in APOB are the second most frequent cause of familial hypercholesterolemia (FH). APOB is highly polymorphic, and many variants are benign or of uncertain significance, so functional analysis is necessary to ascertain their pathogenicity. Our aim was to identify and characterize APOB varia...

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Detalles Bibliográficos
Autores principales: Rodríguez-Jiménez, Carmen, de la Peña, Gema, Sanguino, Javier, Poyatos-Peláez, Sara, Carazo, Ana, Martínez-Hernández, Pedro L., Arrieta, Francisco, Mostaza, José M., Gómez-Coronado, Diego, Rodríguez-Nóvoa, Sonia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10142790/
https://www.ncbi.nlm.nih.gov/pubmed/37108800
http://dx.doi.org/10.3390/ijms24087635

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10142790/
https://www.ncbi.nlm.nih.gov/pubmed/37108800
http://dx.doi.org/10.3390/ijms24087635

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